Friday, 12 September 2014

lightness of being

Holding Daddy's hand in case he was
 a bit worried about having the blood taken
We got back from That London at eleven last night, all shattered and with another bust wing mirror that happened whilst we were parked up overnight.

I have nothing good to report, although the people we saw were very competent.

On Wednesday afternoon we spent an hour with the Physiotherapist and then another hour with the Registrar, who took a thorough case history. Then yesterday morning we spent two hours with Professor Mutoni the head of the team, the same registrar and a specialist nurse. They were thorough, competent and approachable; and they were happy with the investigations that have already been done.

Their conclusions are as follows:

1. There is a brain development issue evident from the MRI done two years ago, with a mis-shaped Cerebellar Folia. This could be caused by Mitochondrial DNA depletion and needs re-checking. This can be linked to a Co-enzyme Q10 deficiency and if that is the case there may be some mitigating treatment possible. They are going to check for this in her blood and look at the lymphocytes. This is not as reliable a test as from muscle tissue and they will also look at the remains of the frozen tissue taken in her biopsy.

2. She has a condition that resembles Centronuclear Myopathy, but does not have the condition of that name. They want to look at the rest of the biopsy to check this as well. Although Vici Syndrome itself was ruled out by specific genetic testing, there are a number of 'sister syndromes' that are linked to it. There is a group researching this at Guys and both her DNA and blood from B and me are being sent to them.

3. They want to do a single fibre muscle biopsy if they don't get anywhere with the above tests. He thinks that it may be that the nerves and muscles don't talk to each other and this would be another avenue of exploration, although this is less likely than the above two scenarios. If they find nothing in the next six to eight months then this biopsy would be an option.

A recessive condition is the most likely scenario - just bad luck and bad genes. Apart from the Q10 thing, there is no treatment for any of this and because there are so few people with the conditions known about, there is no body of statistical evidence to draw on for things like life expectancy. With the sister-syndromes to Vici Syndrome, it would depend on how damaged the gene was. However, of the fifty or so children worldwide with *actual* Vici Syndrome, none of them are older than the age of ten.

We decided coming home last night that finding out what's going on may not impact on N. But it will be helpful for L to have any information in case this is something that he can pass on to his children.

I can't find any words to express how I feel about any of this, except that I am on the verge of weeping all the time.

We are bearing it because there is no alternative; but really, this is unbearable, isn't it?


  1. It really is, my loves xx

  2. No words, just the knowledge that you are doing everything possible. Tears are understandable and necessary. Life sucks at times. Sending love. x

  3. Yes, it is. Wishing there was more to do, to say. Sending love, always.

  4. I can't think of anything to say.